Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553630457
rs1553630457
TGFBR2
8 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1557043622
rs1557043622
SLC35A2
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1057518930
rs1057518930
COL1A1
3 1.000 0.080 17 50197009 splice donor variant C/G snv 0.700 0
dbSNP: rs139751598
rs139751598
PYCR1
13 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
dbSNP: rs1555178899
rs1555178899
WNT1 ; WNT10B
4 0.925 12 48978757 splice region variant AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- delins 0.700 0
dbSNP: rs1555222973
rs1555222973
CREB3L1
6 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
dbSNP: rs1555572315
rs1555572315
COL1A1
1 17 50188740 splice donor variant A/T snv 0.700 0
dbSNP: rs1555575860
rs1555575860
COG4
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
dbSNP: rs1555696625
rs1555696625
NFIX
7 0.851 0.360 19 13025409 missense variant G/A snv 0.700 0
dbSNP: rs1567757138
rs1567757138
COL1A1
2 1.000 0.120 17 50191446 frameshift variant A/- del 0.700 0
dbSNP: rs1568269273
rs1568269273
NFIX
18 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs66527965
rs66527965
COL1A1
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0